5507 lines
No EOL
207 KiB
HTML
5507 lines
No EOL
207 KiB
HTML
<!DOCTYPE html>
|
||
|
||
|
||
|
||
|
||
<html lang="en" >
|
||
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
|
||
<meta charset="UTF-8">
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge">
|
||
|
||
<!-- Mobile properties -->
|
||
<meta name="HandheldFriendly" content="True">
|
||
<meta name="MobileOptimized" content="320">
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0">
|
||
|
||
|
||
|
||
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.google-analytics.com">
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.b576742ffc3e.css" type="text/css">
|
||
|
||
|
||
|
||
<title>Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis - PubMed</title>
|
||
|
||
|
||
|
||
<link rel="preload" as="font" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/uswds/dist/fonts/merriweather-bold-webfont.woff2" type="font/woff2" crossorigin />
|
||
|
||
|
||
|
||
<!-- Favicons -->
|
||
<link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
|
||
<link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
|
||
|
||
<!-- 192x192, as recommended for Android
|
||
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
|
||
-->
|
||
<link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
|
||
|
||
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
|
||
<link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
|
||
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
|
||
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
|
||
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
|
||
|
||
|
||
<!-- For Pinger + Google Optimize integration (NS-820) -->
|
||
<meta name="ncbi_sg_optimize_id" content="">
|
||
|
||
<!-- Mobile browser address bar color -->
|
||
<meta name="theme-color" content="#20558a">
|
||
|
||
<!-- Preserve the Referrer when going from HTTPS to HTTP -->
|
||
<meta name="referrer" content="origin-when-cross-origin">
|
||
|
||
<meta name="ncbi_pinger_gtm_track" content="true"/>
|
||
<!-- Logging params: Pinger defaults -->
|
||
|
||
|
||
<meta name="ncbi_app" content="pubmed" />
|
||
|
||
|
||
|
||
<meta name="ncbi_db" content="pubmed" />
|
||
|
||
|
||
|
||
|
||
|
||
<meta name="ncbi_phid" content="9C150001731F8B85000028E553B5FA3B.1.m_6" />
|
||
|
||
|
||
|
||
<meta name="ncbi_pinger_stat_url" content="https://www.ncbi.nlm.nih.gov/stat" />
|
||
|
||
|
||
|
||
<meta name="log_category" content="literature" />
|
||
|
||
|
||
|
||
<meta name="ncbi_cost_center" content="pubmed" />
|
||
|
||
|
||
|
||
|
||
<!-- Logging params: Pinger custom -->
|
||
|
||
<meta name="ncbi_pdid" content="abstract" />
|
||
|
||
<meta name="log_op" content="retrieve" />
|
||
|
||
<meta name="uid" content="10712196" />
|
||
|
||
<meta name="ncbi_uid" content="10712196" />
|
||
|
||
<meta name="log_displayeduids" content="10712196" />
|
||
|
||
<meta name="log_source_db" content="pubmed,pmc" />
|
||
|
||
<meta name="log_icons_present" content="true" />
|
||
|
||
<meta name="ncbi_search_id" content="kjbRWBkDIXeX-by9JGX6VA:8b9d5785f202b0f1d1dd385744654af2" />
|
||
|
||
<meta name="ncbi_adj_nav_search_id" content="Of7xO9CsA8904t9PARhWuA:8b9d5785f202b0f1d1dd385744654af2" />
|
||
|
||
|
||
|
||
|
||
<!-- Social meta tags for unfurling urls -->
|
||
|
||
<meta name="description" content="Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped …"><meta name="keywords" content="pmid:10712196, PMC1288163, doi:10.1086/302819, Research Support, Non-U.S. Gov't, S Saunier, J Calado, C Antignac, Adaptor Proteins, Signal Transducing, Blotting, Southern, Child, Consanguinity, Cytoskeletal Proteins, Electrophoresis, Gel, Pulsed-Field, Family Health, Humans, Kidney Failure, Chronic / genetics*, Membrane Proteins, Mutagenesis / genetics*, Physical Chromosome Mapping, Proteins / genetics*, Recombination, Genetic / genetics, Repetitive Sequences, Nucleic Acid / genetics, Sequence Deletion / genetics*, Sequence Tagged Sites, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/10712196/"><meta property="og:description" content="Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/10712196/"><meta name="twitter:description" content="Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
|
||
|
||
|
||
<!-- OpenSearch XML -->
|
||
<link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">
|
||
|
||
<!-- Disables severely broken elements when no JS -->
|
||
<noscript>
|
||
<link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/no-script.css">
|
||
</noscript>
|
||
|
||
|
||
|
||
<meta name="citation_title" content="Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis">
|
||
|
||
|
||
<meta name="citation_authors" content="Saunier S;Calado J;Benessy F;Silbermann F;Heilig R;Weissenbach J;Antignac C;">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_date" content="2000 Mar">
|
||
|
||
|
||
|
||
<meta name="citation_publisher" content="Am J Hum Genet">
|
||
|
||
<meta name="citation_journal_title" content="American journal of human genetics">
|
||
<meta name="citation_pmid" content="10712196">
|
||
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/10712196/">
|
||
|
||
|
||
<meta name="citation_volume" content="66">
|
||
|
||
|
||
<meta name="citation_issue" content="3">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_doi" content="10.1086/302819">
|
||
|
||
|
||
<meta name="citation_issn" content="0002-9297">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/10712196/" />
|
||
|
||
|
||
|
||
</head>
|
||
<body >
|
||
|
||
|
||
|
||
<noscript>
|
||
<div class="no-script-banner" id="no-script-banner">
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</noscript>
|
||
|
||
<div class="no-session-banner" id="no-session-banner" hidden>
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
Clipboard, Search History, and several other advanced features are temporarily unavailable.
|
||
</div>
|
||
<button class="close-banner-button"
|
||
title="Close Clipboard and Search History not available warning banner"
|
||
ref="linksrc=close_no_session_banner"
|
||
aria-controls="no-session-banner"
|
||
aria-label="Close Clipboard and Search History not available warning banner"
|
||
aria-expanded="true">
|
||
</button>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<a class="usa-skipnav" href="#article-details">
|
||
Skip to main page content
|
||
</a>
|
||
|
||
<!-- ========== BEGIN HEADER ========== -->
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button
|
||
class="usa-accordion-button usa-banner-button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-top"
|
||
>
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner-content usa-grid usa-accordion-content"
|
||
id="gov-banner-top"
|
||
>
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
|
||
alt="Dot gov"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it’s official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you’re on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
|
||
alt="Https"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none"
|
||
aria-controls="account_popup">
|
||
<span class="fa fa-user" aria-hidden="true"></span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br/>
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
<!-- ========== END HEADER ========== -->
|
||
|
||
|
||
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
|
||
|
||
|
||
|
||
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
|
||
<div class="inner-wrap">
|
||
<a class="pubmed-logo"
|
||
aria-label="Pubmed Logo"
|
||
href="/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="pubmed_logo">
|
||
|
||
|
||
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
|
||
|
||
</a>
|
||
|
||
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
|
||
</a>
|
||
|
||
<div role="search" class="search-input">
|
||
|
||
|
||
<div class="form-field ">
|
||
|
||
|
||
<label class="usa-sr-only" for="id_term">
|
||
Search:
|
||
</label>
|
||
|
||
|
||
|
||
<input
|
||
type="search"
|
||
name="term"
|
||
|
||
data-skip-ie-scroll-to-top=""
|
||
data-replace-term-with-exact=""
|
||
data-exact-query=""
|
||
placeholder=""
|
||
class="term-input"
|
||
required="required"
|
||
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<!-- Create alert and Create RSS are buttons that look like links -->
|
||
<!-- Better for them to look like buttons but no space -->
|
||
<div class="search-links-wrapper content-page-layout">
|
||
<div class="search-links">
|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10712196%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10712196%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 10712196 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 10712196"/>
|
||
<input type="hidden" name="email-subject-hash" value="ccf88647d647c1b5f478d8b44583fdf7fba7b1735f4fb4b6a608a1295e879ee7"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="10712196">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)64008-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=10712196&db=pubmed&nlmid=0370475"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="10712196"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-celloa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/10712196/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=10712196&db=pubmed&nlmid=0370475"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="10712196"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/10712196/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/10712196/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="10712196" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10712196%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
<div class="social-sharing">
|
||
<h3 class="title">
|
||
Share
|
||
</h3>
|
||
<ul class="social-sharing-links usa-unstyled-list">
|
||
|
||
|
||
<li>
|
||
<a href="http://twitter.com/intent/tweet?text=Characterization%20of%20the%20NPHP1%20locus%3A%20mutational%20mechanism%20involved%20in%20deletions%20in%20familial%20juvenile%20nephronophthis%E2%80%A6%20https%3A//pubmed.ncbi.nlm.nih.gov/10712196/"
|
||
class="share-link share-link-twitter"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Twitter"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="twitter"></a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/10712196/"
|
||
class="share-link share-link-facebook"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Facebook"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="fb"></a>
|
||
</li>
|
||
|
||
<li>
|
||
<div class="share-permalink">
|
||
<button class="trigger"
|
||
title="Show article permalink"
|
||
ref="linksrc=show_permalink_btn">
|
||
</button>
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Permalink
|
||
</div>
|
||
<div class="content">
|
||
|
||
|
||
<input type="text"
|
||
class="permalink-text"
|
||
value="https://pubmed.ncbi.nlm.nih.gov/10712196/"
|
||
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
|
||
title="Copy article permalink"
|
||
data-ga-category="save_share"
|
||
data-ga-action="link"
|
||
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Page navigation
|
||
</h3>
|
||
<ul class="items-list">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="heading ">
|
||
<a href="#heading"
|
||
aria-label="navigate to Title & authors section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="heading">
|
||
Title & authors
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="abstract ">
|
||
<a href="#abstract"
|
||
aria-label="navigate to Abstract section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="abstract">
|
||
Abstract
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="figures ">
|
||
<a href="#figures"
|
||
aria-label="navigate to Figures section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="figures">
|
||
Figures
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="similar ">
|
||
<a href="#similar"
|
||
aria-label="navigate to Similar articles section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="similar">
|
||
Similar articles
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="citedby ">
|
||
<a href="#citedby"
|
||
aria-label="navigate to Cited by section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="citedby">
|
||
Cited by
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="references ">
|
||
<a href="#references"
|
||
aria-label="navigate to References section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="references">
|
||
References
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="publication-types ">
|
||
<a href="#publication-types"
|
||
aria-label="navigate to Publication types section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="publication-types">
|
||
Publication types
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="mesh-terms ">
|
||
<a href="#mesh-terms"
|
||
aria-label="navigate to MeSH terms section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="mesh-terms">
|
||
MeSH terms
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="substances ">
|
||
<a href="#substances"
|
||
aria-label="navigate to Substances section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="substances">
|
||
Substances
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="related-links ">
|
||
<a href="#related-links"
|
||
aria-label="navigate to Related information section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="related-links">
|
||
Related information
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="linkout ">
|
||
<a href="#linkout"
|
||
aria-label="navigate to LinkOut - more resources section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="linkout">
|
||
LinkOut - more resources
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
</div>
|
||
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="heading">Title & authors</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="abstract">Abstract</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="figures">Figures</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="similar">Similar articles</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="citedby">Cited by</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="references">References</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="publication-types">Publication types</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="mesh-terms">MeSH terms</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="substances">Substances</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="related-links">Related information</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="linkout">LinkOut - more resources</option>
|
||
|
||
|
||
|
||
|
||
|
||
</select>
|
||
</nav>
|
||
|
||
</div>
|
||
</aside>
|
||
|
||
<main class="article-details" id="article-details">
|
||
|
||
|
||
<!-- "Filters applied" shows only when page is redirected from search -->
|
||
<!-- because search found one result -->
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<header class="heading" id="heading">
|
||
|
||
|
||
<div class="full-view" id="full-view-heading">
|
||
|
||
<div class="article-citation">
|
||
|
||
|
||
|
||
|
||
<div class="article-source">
|
||
|
||
<div class="journal-actions dropdown-block"><button id="full-view-journal-trigger"
|
||
class="journal-actions-trigger trigger"
|
||
ref="linksrc=journal_actions_btn"
|
||
title="American journal of human genetics"
|
||
tabindex="0"
|
||
aria-controls="full-view-journal"
|
||
aria-expanded="false"
|
||
aria-label="Toggle dropdown menu for journal American journal of human genetics"
|
||
data-pinger-ignore>
|
||
Am J Hum Genet
|
||
</button><div id="full-view-journal"
|
||
class="journal-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for journal American journal of human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Am J Hum Genet"
|
||
data-ga-category="search"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Am J Hum Genet">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
|
||
ref ="linksrc=search_in_nlm_catalog_link"
|
||
|
||
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Hum+Genet%22%5BTitle+Abbreviation%5D"
|
||
|
||
data-ga-category="search_catalog"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Am J Hum Genet">
|
||
Search in NLM Catalog
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref ="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term='"Am J Hum Genet"[jour]'
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label='"Am J Hum Genet"[jour]'
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2000 Mar;66(3):778-89.</span>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<span class="citation-doi">
|
||
doi: 10.1086/302819.
|
||
</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="inline-authors">
|
||
|
||
|
||
|
||
|
||
|
||
<div class="authors">
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Saunier+S&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="S Saunier">S Saunier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U423, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Calado+J&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="J Calado">J Calado</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Benessy+F&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="F Benessy">F Benessy</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Silbermann+F&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="F Silbermann">F Silbermann</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Heilig+R&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="R Heilig">R Heilig</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Weissenbach+J&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="J Weissenbach">J Weissenbach</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Antignac+C&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="C Antignac">C Antignac</a></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<div class="short-article-details">
|
||
|
||
|
||
|
||
Affiliations
|
||
|
||
|
||
|
||
<button
|
||
class="more-details"
|
||
id="toggle-authors"
|
||
data-alt-text="Collapse"
|
||
aria-controls="expanded-authors"
|
||
aria-expanded="false"
|
||
data-pinger-ignore
|
||
data-fetch-url="/10712196/long-authors/"
|
||
data-id-prefix="">
|
||
<span class="title">
|
||
Expand
|
||
</span>
|
||
</button>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="extended-article-details" id="expanded-authors" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
<div class="expanded-authors" id="full-view-expanded-authors">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliation
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="full-view-affiliation-1"
|
||
id="full-view-affiliation-1"
|
||
><sup class="key">1</sup> INSERM U423, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<ul class="identifiers" id="full-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">10712196</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC1288163&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC1288163/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC1288163
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1086/302819&id_type=DOI"
|
||
href="https://doi.org/10.1086/302819"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1086/302819
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
||
</div>
|
||
</div>
|
||
<div class="short-view" id="short-view-heading">
|
||
|
||
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="short-citation">
|
||
<span class="authors-list">
|
||
|
||
|
||
<span class="authors-list-item "><span class="full-name">S Saunier</span><span class="citation-separator"> et al.</span></span>
|
||
|
||
|
||
</span>
|
||
|
||
|
||
<span class="citation-journal">
|
||
Am J Hum Genet<span class="citation-separator">.</span>
|
||
</span>
|
||
|
||
<span class="date">
|
||
<span class="citation-year">2000 Mar</span><span class="citation-separator">.</span>
|
||
</span>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<div class="more-article-details-section with-display-settings">
|
||
<button class="more-article-details"
|
||
id="toggle-article-details"
|
||
data-alt-text="Hide details"
|
||
ref="linksrc=toggle_article_details"
|
||
aria-controls="full-article-details"
|
||
aria-expanded="false"
|
||
data-fetch-url="/10712196/long-authors/"
|
||
data-id-prefix="">
|
||
<span class="title">Show details</span>
|
||
</button>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="mobile-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
|
||
|
||
<div class="article-citation">
|
||
|
||
|
||
<div class="article-source">
|
||
|
||
<div class="journal-actions dropdown-block"><button id="short-view-journal-trigger"
|
||
class="journal-actions-trigger trigger"
|
||
ref="linksrc=journal_actions_btn"
|
||
title="American journal of human genetics"
|
||
tabindex="0"
|
||
aria-controls="short-view-journal"
|
||
aria-expanded="false"
|
||
aria-label="Toggle dropdown menu for journal American journal of human genetics"
|
||
data-pinger-ignore>
|
||
Am J Hum Genet
|
||
</button><div id="short-view-journal"
|
||
class="journal-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for journal American journal of human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Am J Hum Genet"
|
||
data-ga-category="search"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Am J Hum Genet">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
|
||
ref ="linksrc=search_in_nlm_catalog_link"
|
||
|
||
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Hum+Genet%22%5BTitle+Abbreviation%5D"
|
||
|
||
data-ga-category="search_catalog"
|
||
data-ga-action="journal_link"
|
||
data-ga-label="Am J Hum Genet">
|
||
Search in NLM Catalog
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref ="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term='"Am J Hum Genet"[jour]'
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label='"Am J Hum Genet"[jour]'
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2000 Mar;66(3):778-89.</span>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<span class="citation-doi">
|
||
doi: 10.1086/302819.
|
||
</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="expanded-authors" id="short-view-expanded-authors">
|
||
|
||
<div class="authors">
|
||
<h3 class="title">
|
||
Authors
|
||
</h3>
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Saunier+S&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="S Saunier">S Saunier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U423, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Calado+J&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="J Calado">J Calado</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Benessy+F&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="F Benessy">F Benessy</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Silbermann+F&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="F Silbermann">F Silbermann</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Heilig+R&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="R Heilig">R Heilig</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Weissenbach+J&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="J Weissenbach">J Weissenbach</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Antignac+C&cauthor_id=10712196"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="C Antignac">C Antignac</a></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliation
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> INSERM U423, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<ul class="identifiers" id="short-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">10712196</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC1288163&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC1288163/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC1288163
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1086/302819&id_type=DOI"
|
||
href="https://doi.org/10.1086/302819"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1086/302819
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</header>
|
||
|
||
|
||
|
||
<div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger"
|
||
title="Open dialog with full text links"
|
||
ref="linksrc=full_text_links">
|
||
Full text links
|
||
</button><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/10712196/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/10712196/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="abstract" id="abstract">
|
||
|
||
<h2 class="title">
|
||
Abstract
|
||
|
||
</h2>
|
||
|
||
|
||
|
||
<div class="abstract-content selected"
|
||
id="eng-abstract">
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped to 2q13 and characterized. The major NPHP1 gene defect is a large homozygous deletion found in approximately 80% of the patients. In this study, by large-scale genomic sequencing and pulsed-field gel electrophoresis analysis, we characterized the complex organization of the NPHP1 locus and determined the mutational mechanism that results in the large deletion observed in most patients. We showed that the deletion is 290 kb in size and that NPHP1 is flanked by two large inverted repeats of approximately 330 kb. In addition, a second sequence of 45 kb located adjacent to the proximal 330-kb repeat was shown to be directly repeated 250 kb away within the distal 330-kb repeat deleting the sequence tag site (STS) 804H10R present in the proximal copy. The patients' deletion breakpoints appear to be located within the 45-kb repeat, suggesting an unequal recombination between the two homologous copies of this smaller repeat. Moreover, we demonstrated a nonpathologic rearrangement involving the two 330-kb inverted repeats found in 11 patients and, in the homozygous state, in 2 (1.3%) control individuals. This could be explained by interchromosomal mispairing of the 330-kb inverted repeat, followed by double recombination or by a prior intrachromosomal mispairing of these repeats, leading to an inversion of the NPHP1 region, followed by an interchromosomal unequal crossover event. This complex rearrangement, as well as the common deletion found in most patients, illustrates the high level of rearrangements occurring in the centromeric region of chromosome 2.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p class="disclaimer" id="disclaimer">
|
||
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
|
||
data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="figures" id="figures">
|
||
<h2 class="title">
|
||
Figures
|
||
</h2>
|
||
|
||
<div class="figures-list" id="slides-container"
|
||
itemscope itemtype="http://schema.org/ImageGallery">
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="0"
|
||
data-label-slug="figure-1">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/6478a9c27b1d/AJHGv66p778fg1.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-0"
|
||
role="button"
|
||
data-image-width="616"
|
||
data-image-height="351"
|
||
data-image-alt="Figure 1"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG1">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-0"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/68ac2ff03cea/AJHGv66p778fg1.gif"
|
||
alt="Figure 1" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="616">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="351">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Characterization of the genomic region… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Characterization of the genomic region surrounding the <i> NPHP1 </i> gene. <i> A, </i> Diagram of the… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 1
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Characterization of the genomic region surrounding the <i>NPHP1</i> gene. <i>A,</i> Diagram of the sequenced region. The thick line represents the entirely sequenced interval, whereas the dashed thick line represents the partially sequenced region. BAC clones are represented as solid lines, and the BAC ends mapped to the region are shown as open rectangles. <i>B,</i> Restriction map of the <i>NPHP1</i> region and YAC contig spanning the region. STS positions and restriction sites (F = <i>Sfi</i>I; C = <i>Cla</i>I; S = <i>Sal</i>I; M = <i>Mlu</i>I; Sc = <i>Sac</i>II; N = <i>Not</i>I) are indicated by vertical lines. <i>Not</i>I sites used to define the extent of the deletion are shown in red. The markers in green and blue are localized within the 45-kb direct and the 330-kb inverted repeats, respectively, and the markers in red are those initially found to be deleted by PCR analysis of individuals with nephronophthisis. <i>C,</i> Schematic representation of the genomic region surrounding the <i>NPHP1</i> gene. The shaded blue and green arrows represent, respectively, the inverted 330-kb repeats (named “330RI” and “330RII”) and the direct 45-kb repeats (named “45RI” and “45RII”). The <i>NPHP1</i> gene is represented by an open box, and the direction of transcription is indicated by the small arrow above it. The red rectangle indicates the region around 804H10R in 330RI, deleted by the distal copy of the direct 45-kb repeat in 330RII.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="1"
|
||
data-label-slug="figure-2">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/a87c7f6661bb/AJHGv66p778fg2.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-1"
|
||
role="button"
|
||
data-image-width="453"
|
||
data-image-height="287"
|
||
data-image-alt="Figure 2"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG2">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-1"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/ab4d008199bd/AJHGv66p778fg2.gif"
|
||
alt="Figure 2" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="453">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="287">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Southern blot hybridization of <i> Sal… </i> </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Southern blot hybridization of <i> Sal </i> I ( <i> a, b </i> ) and <i> Sfi </i> I… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 2
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Southern blot hybridization of <i>Sal</i>I (<i>a, b</i>) and <i>Sfi</i>I (<i>c, d</i>) digested DNA from five YACs spanning the <i>NPHP1</i> region with 96G18BD (<i>a, c</i>) and 804H10R (<i>b, d</i>). Only a 165-kb <i>Sal</i>I fragment and a 68-kb <i>Sfi</i>I fragment were detected with the 804H10R probe in the two YACs covering the whole region (879D3 and 876H12), and no fragment was detected in the YACs covering only the distal copy of the inverted repeats (765F2 and 769G7), demonstrating that 804H10R escapes duplication.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="2"
|
||
data-label-slug="figure-3">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/0c26270565ad/AJHGv66p778fg3.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-2"
|
||
role="button"
|
||
data-image-width="463"
|
||
data-image-height="253"
|
||
data-image-alt="Figure 3"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-2"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/2deb939bef91/AJHGv66p778fg3.gif"
|
||
alt="Figure 3" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="463">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="253">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> Sfi </i> I-digested DNA of four…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> Sfi </i> I-digested DNA of four YACs spanning the <i> NPHP1 </i> region successively hybridized with…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i>Sfi</i>I-digested DNA of four YACs spanning the <i>NPHP1</i> region successively hybridized with probes 57A (<i>a</i>), 183K24BD (<i>b</i>), R30A (<i>c</i>), and N123 (<i>d</i>). All markers are duplicated; two <i>Sfi</i>I fragments are present in YACs covering the whole <i>NPHP1</i> region (879D3 and 876H12), whereas only one fragment is detected in YACs covering only the telomeric part of the region (765F2 and 769G7), allowing us to distinguish both copies. Note that R30A and 183K24BD detect the same 80-kb telomeric fragment, and that 57A and N123 detect the same 85-kb telomeric fragment.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="3"
|
||
data-label-slug="figure-4">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/899e586b8406/AJHGv66p778fg4.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-3"
|
||
role="button"
|
||
data-image-width="627"
|
||
data-image-height="448"
|
||
data-image-alt="Figure 4"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG4">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-3"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/9d8f8eeb26f1/AJHGv66p778fg4.gif"
|
||
alt="Figure 4" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="627">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="448">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 4 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> A, </i> Schematic representation of the…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 4 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> A, </i> Schematic representation of the common <i> NPHP1 </i> deletion involving an homologous recombination between…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 4
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i>A,</i> Schematic representation of the common <i>NPHP1</i> deletion involving an homologous recombination between the 45-kb direct repeats and leading to a deletion of 290 kb; <i>top,</i> normal chromosome; <i>bottom,</i> deleted chromosome. <i>B,</i> Model of unequal recombination by chromosome misalignment followed by formation of a loop structure. <i>C,</i> Model of unequal recombination by unequal crossing-over between two different chromosomes, leading in theory to either a deletion (<i>middle</i>) or duplication (<i>bottom</i>) of the <i>NPHP1</i> gene.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="4"
|
||
data-label-slug="figure-5">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/86d95f48ccd5/AJHGv66p778fg5.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-4"
|
||
role="button"
|
||
data-image-width="447"
|
||
data-image-height="253"
|
||
data-image-alt="Figure 5"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG5">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-4"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/fe01f1ae543e/AJHGv66p778fg5.gif"
|
||
alt="Figure 5" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="447">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="253">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 5 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> PFGE of <i> Not </i> I-digested DNA… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 5 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> PFGE of <i> Not </i> I-digested DNA of 12 patients and a control individual hybridized… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 5
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">PFGE of <i>Not</i>I-digested DNA of 12 patients and a control individual hybridized with 183K24BD. <i>Lane 1,</i> control individual showing a normal ∼800-kb <i>Not</i>I fragment. <i>Lanes 2–10,</i> patients from group A with homozygous deletion of makers 765F2L and 804/6, as detected by PCR. An abnormal ∼510 kb <i>Not</i>I fragment is detected. <i>Lane 11,</i> patient from group C only deleted for 804H10R by PCR, with an apparently normal 800-kb <i>Not</i>I fragment. <i>Lanes 12 and 13,</i> patients from group A deleted for 765F2L and 804/6 with two distinct <i>Not</i>I fragments (∼510 kb and ∼550 kb).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="5"
|
||
data-label-slug="figure-6">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/9c1ace891b60/AJHGv66p778fg6.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-5"
|
||
role="button"
|
||
data-image-width="552"
|
||
data-image-height="294"
|
||
data-image-alt="Figure 6"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG6">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-5"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/29e3ead48207/AJHGv66p778fg6.gif"
|
||
alt="Figure 6" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="552">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="294">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 6 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> PFGE of <i> Sfi </i> I-digested DNA… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 6 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> PFGE of <i> Sfi </i> I-digested DNA of 11 patients and a control individual successively… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-5" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 6
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">PFGE of <i>Sfi</i>I-digested DNA of 11 patients and a control individual successively hybridized with 96G18BD and 183K24BD. Hybridization with probes 96G18BD (<i>a</i>) and 183K24BD (<i>b</i>) reveals two <i>Sfi</i>I fragments in the control individual (<i>lane 1</i>), 95-kb and 45-kb proximal fragments, and 80- and 65-kb telomeric fragments, respectively. <i>Lanes 2–10,</i> patients from group A with deletion of markers 765F2L and 804/6 by PCR. The normal proximal fragments detected by both probes are missing. <i>Lanes 11 and 12,</i> patients from group A with two distinct abnormal <i>Not</i>I fragments (fig. 5). Hybridization with 183K24BD reveals the normal 80-kb telomeric <i>Sfi</i>I fragment.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="6"
|
||
data-label-slug="figure-7">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/83d6af606d59/AJHGv66p778fg7.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-6"
|
||
role="button"
|
||
data-image-width="610"
|
||
data-image-height="415"
|
||
data-image-alt="Figure 7"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG7">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-6"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/d7414c91ded3/AJHGv66p778fg7.gif"
|
||
alt="Figure 7" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="610">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="415">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 7 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> A, </i> Genomic <i> Sfi </i> I map…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 7 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> A, </i> Genomic <i> Sfi </i> I map of the <i> NPHP1 </i> region when 804H10R is missing…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-6" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 7
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i>A,</i> Genomic <i>Sfi</i>I map of the <i>NPHP1</i> region when 804H10R is missing and replaced by an additional copy of 45RII. <i>B,</i> Reciprocal rearrangement leading to the duplication of 804H10R. <i>C,</i> Models for nonpathogenic DNA rearrangements mediated by mispairing of the inverted repeats and double homologous recombination (<i>C</i>) or by a crossing-over between the inverted repeats leading to an inversion of the whole <i>NPHP1</i> region (<i>C′</i>), followed by a crossing-over, localized telomeric of the 804H10R marker (<i>C″</i>). Centromeric and telomeric copies of 57A and 183K24BD are indicated in orange and blue, respectively.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="7"
|
||
data-label-slug="figure-8">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/88bcb30f04a9/AJHGv66p778fg8.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-7"
|
||
role="button"
|
||
data-image-width="443"
|
||
data-image-height="189"
|
||
data-image-alt="Figure 8"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG8">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-7"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/7607bf2dc266/AJHGv66p778fg8.gif"
|
||
alt="Figure 8" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="443">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="189">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 8 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Southern blot analysis of <i> Pst… </i> </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 8 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Southern blot analysis of <i> Pst </i> I-digested DNA of control individuals hybridized with probe… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-7" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 8
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Southern blot analysis of <i>Pst</i>I-digested DNA of control individuals hybridized with probe C40. Lanes 3, 5, and 7 show that the 7-kb fragment is more intense than the 8.7-kb fragment, suggesting that each individual has only one copy of 804H10R and three copies of 45RII. Lanes 8–10 show that the 8.7-kb fragment is more intense than the 7-kb fragment, suggesting the occurrence of the reciprocal event (i.e., three copies of 804H10R and one copy of 45RII) in these individuals. Lane 4 shows a control individual carrying a homozygous deletion of 804H10R as detected by PCR. Lanes 1, 2, and 6 depict control individuals showing two bands of the same intensity; therefore, they are not carrying a nonpathogenic rearrangement.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="8"
|
||
data-label-slug="figure-9">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/c8c209f0819e/AJHGv66p778fg9.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-8"
|
||
role="button"
|
||
data-image-width="470"
|
||
data-image-height="191"
|
||
data-image-alt="Figure 9"
|
||
data-pmc-id="PMC1288163"
|
||
data-figure-id="FG9">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-8"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61f9/1288163/0e8d98d1f6ec/AJHGv66p778fg9.gif"
|
||
alt="Figure 9" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="470">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="191">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 9 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> PFGE of <i> Not </i> I-digested DNA… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 9 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> PFGE of <i> Not </i> I-digested DNA of a patient and her parents successively hybridized… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-8" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 9
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">PFGE of <i>Not</i>I-digested DNA of a patient and her parents successively hybridized with 183K24BD (<i>a</i>) and 804H10R (<i>b</i>). Lane 3 depicts an affected individual. Lanes 1 and 2 depict the father and the mother of the patient, respectively. Each parent is heterozygous for the <i>NPHP1</i> deletion, as shown by hybridization with 183K24BD, but the father lacks the 804H10R marker on the deleted allele. Furthermore, the abnormal <i>Not</i>I fragment detected by 183K24BD in the father (∼550 kb) is slightly larger than the abnormal fragment detected in the mother (∼510 kb), in agreement with the occurrence of a 290-kb deletion on a chromosome carrying the nonpathogenic rearrangement and, thus, two copies of the 45-kb repeat. This proves that the child bears the nonpathogenic rearrangement on her paternal allele in addition to the 290-kb deletion on both alleles, as was suggested by the <i>Sfi</i>I pattern.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="see-all actions-bar">
|
||
<button
|
||
class="show-more"
|
||
aria-controls="slides-container"
|
||
data-ga-category="figure"
|
||
data-ga-action="show_all">
|
||
All figures (9)
|
||
</button>
|
||
</div>
|
||
|
||
|
||
<!-- Root element of PhotoSwipe. Must have class pswp. -->
|
||
<div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true"
|
||
data-image-gallery-uid="article-figures" aria-label="Figures Dialog">
|
||
<!-- Background of PhotoSwipe.
|
||
It's a separate element as animating opacity is faster than rgba(). -->
|
||
<div class="pswp__bg"></div>
|
||
|
||
<!-- Slides wrapper with overflow:hidden. -->
|
||
<div class="pswp__scroll-wrap">
|
||
<!-- Container that holds slides.
|
||
PhotoSwipe keeps only 3 of them in the DOM to save memory.
|
||
Don't modify these 3 pswp__item elements, data is added later on. -->
|
||
<div class="pswp__container">
|
||
<div class="pswp__item"></div>
|
||
<div class="pswp__item"></div>
|
||
<div class="pswp__item"></div>
|
||
</div>
|
||
|
||
<!-- Default (PhotoSwipeUI_Default) interface on top of sliding area. Can be changed. -->
|
||
<div class="pswp__ui pswp__ui--hidden">
|
||
<div class="pswp__top-bar">
|
||
<!-- Controls are self-explanatory. Order can be changed. -->
|
||
<div class="pswp__counter"></div>
|
||
<button class="pswp__button pswp__button--close" title="Close (Esc)"></button>
|
||
<button class="pswp__button pswp__button--share" title="Share"></button>
|
||
<button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button>
|
||
<button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>
|
||
|
||
<!-- Preloader demo http://codepen.io/dimsemenov/pen/yyBWoR -->
|
||
<!-- element will get class pswp__preloader--active when preloader is running -->
|
||
<div class="pswp__preloader">
|
||
<div class="pswp__preloader__icn">
|
||
<div class="pswp__preloader__cut">
|
||
<div class="pswp__preloader__donut"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap">
|
||
<div class="pswp__share-tooltip"></div>
|
||
</div>
|
||
|
||
<button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)">
|
||
</button>
|
||
|
||
<button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)">
|
||
</button>
|
||
|
||
<div class="pswp__caption">
|
||
<div class="pswp__caption__center"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-dialog-caption">
|
||
<div class="figure-caption-link-container">
|
||
<a class="figure-caption-link" href="#">See this image and copyright information in PMC</a>
|
||
</div>
|
||
<div class="figure-caption-center"
|
||
data-expand-title="click to show full caption"
|
||
data-collapse-title="click to hide full caption">
|
||
</div>
|
||
<button class="figure-caption-toggle-btn"
|
||
aria-label="show full caption"
|
||
data-expand-text="show full caption"
|
||
data-collapse-text="hide full caption">
|
||
<!-- Dynamic text -->
|
||
</button>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="similar-articles" id="similar">
|
||
<h2 class="title">
|
||
Similar articles
|
||
</h2>
|
||
|
||
<ul class="articles-list" id="similar-articles-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/10980528/"
|
||
ref="article_id=10980528&linksrc=similar_articles_link&ordinalpos=1"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="10980528"
|
||
data-ga-label="">
|
||
|
||
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Otto E, Betz R, Rensing C, Schätzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Otto E, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Hum Mutat. 2000 Sep;16(3):211-23. doi: 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Hum Mutat. 2000.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">10980528</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/8852662/"
|
||
ref="article_id=8852662&linksrc=similar_articles_link&ordinalpos=2"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="8852662"
|
||
data-ga-label="">
|
||
|
||
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Konrad M, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Hum Mol Genet. 1996 Mar;5(3):367-71. doi: 10.1093/hmg/5.3.367.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Hum Mol Genet. 1996.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">8852662</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/26641089/"
|
||
ref="article_id=26641089&linksrc=similar_articles_link&ordinalpos=3"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="26641089"
|
||
data-ga-label="">
|
||
|
||
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Yuan B, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">PLoS Genet. 2015 Dec 7;11(12):e1005686. doi: 10.1371/journal.pgen.1005686. eCollection 2015 Dec.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">PLoS Genet. 2015.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">26641089</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/9326933/"
|
||
ref="article_id=9326933&linksrc=similar_articles_link&ordinalpos=4"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="9326933"
|
||
data-ga-label="">
|
||
|
||
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Hildebrandt F, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Nat Genet. 1997 Oct;17(2):149-53. doi: 10.1038/ng1097-149.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Nat Genet. 1997.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">9326933</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/26037636/"
|
||
ref="article_id=26037636&linksrc=similar_articles_link&ordinalpos=5"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="26037636"
|
||
data-ga-label="">
|
||
|
||
Identification of an NPHP1 deletion causing adult form of nephronophthisis.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Haghighi A, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Ir J Med Sci. 2016 Aug;185(3):589-595. doi: 10.1007/s11845-015-1312-7. Epub 2015 Jun 4.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Ir J Med Sci. 2016.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">26037636</span></span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
|
||
<a
|
||
class="show-all-linked-articles"
|
||
data-href="/?linkname=pubmed_pubmed&from_uid=10712196"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="show_all"
|
||
>
|
||
See all similar articles
|
||
</a>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="citedby-articles" id="citedby">
|
||
<h2 class="title">
|
||
Cited by
|
||
</h2>
|
||
|
||
<ul class="articles-list" id="citedby-articles-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/33774617/"
|
||
ref="article_id=33774617&linksrc=citedby_articles_link&ordinalpos=1"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="33774617"
|
||
data-ga-label="">
|
||
|
||
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Lazaro-Guevara J, Fierro-Morales J, Wright AH, Gunville R, Simeone C, Frodsham SG, Pezzolesi MH, Zaffino CA, Al-Rabadi L, Ramkumar N, Pezzolesi MG.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Lazaro-Guevara J, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Am J Nephrol. 2021;52(3):239-249. doi: 10.1159/000514578. Epub 2021 Mar 26.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Am J Nephrol. 2021.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">33774617</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/31763177/"
|
||
ref="article_id=31763177&linksrc=citedby_articles_link&ordinalpos=2"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="31763177"
|
||
data-ga-label="">
|
||
|
||
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Parisi MA.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Parisi MA.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Transl Sci Rare Dis. 2019 Jul 4;4(1-2):25-49. doi: 10.3233/TRD-190041.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Transl Sci Rare Dis. 2019.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">31763177</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/21866095/"
|
||
ref="article_id=21866095&linksrc=citedby_articles_link&ordinalpos=3"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="21866095"
|
||
data-ga-label="">
|
||
|
||
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Chaki M, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Kidney Int. 2011.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">21866095</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/21658830/"
|
||
ref="article_id=21658830&linksrc=citedby_articles_link&ordinalpos=4"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="21658830"
|
||
data-ga-label="">
|
||
|
||
Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Al-Romaih KI, Genovese G, Al-Mojalli H, Al-Othman S, Al-Manea H, Al-Suleiman M, Al-Jondubi M, Atallah N, Al-Rodayyan M, Weins A, Pollak MR, Adra CN.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Al-Romaih KI, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Am J Kidney Dis. 2011 Aug;58(2):186-95. doi: 10.1053/j.ajkd.2011.01.025. Epub 2011 Jun 12.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Am J Kidney Dis. 2011.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">21658830</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/24023594/"
|
||
ref="article_id=24023594&linksrc=citedby_articles_link&ordinalpos=5"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="24023594"
|
||
data-ga-label="">
|
||
|
||
Post renal transplant type 2 diabetes mellitus in a case of familial juvenile nephrophthisis.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Balgradean M, Cinteza E, Ferechide D.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Balgradean M, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Maedica (Bucur). 2013 Mar;8(1):26-9.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Maedica (Bucur). 2013.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">24023594</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
|
||
<a
|
||
class="show-all-linked-articles"
|
||
data-href="/?linkname=pubmed_pubmed_citedin&from_uid=10712196"
|
||
data-ga-category="cited_by"
|
||
data-ga-action="show_all"
|
||
>
|
||
See all "Cited by" articles
|
||
</a>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="references" id="references">
|
||
<h2 class="title">
|
||
References
|
||
</h2>
|
||
<div id='top-references-list' class="references-lists-container">
|
||
|
||
<div class="refs-list">
|
||
|
||
|
||
|
||
<h4 class="refs-list-title">Electronic-Database Information</h4>
|
||
|
||
|
||
|
||
|
||
|
||
<ol id="top-references-list-1" class="references-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Online Mendelian Inheritance in Man (OMIM), <a href="http://www.ncbi.nlm.nih.gov/Omim" rel="noopener nofollow" target="_blank" title="External link: http://www.ncbi.nlm.nih.gov/Omim">http://www.ncbi.nlm.nih.gov/Omim</a> (for familial juvenile nephronophthisis [MIM <a href="256100" rel="noopener nofollow" target="_blank" title="External link: 256100">256100</a>])
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
RepeatMasker program, <a href="http://ftp.genome.washington.edu/cgi-bin/RepeatMasker" rel="noopener nofollow" target="_blank" title="External link: http://ftp.genome.washington.edu/cgi-bin/RepeatMasker">http://ftp.genome.washington.edu/cgi-bin/RepeatMasker</a>
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
|
||
</ol>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<div class="refs-list">
|
||
|
||
|
||
|
||
<h4 class="refs-list-title">References</h4>
|
||
|
||
|
||
|
||
|
||
|
||
<ol id="top-references-list-2" class="references-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Allshire RC, Gosden JR, Cross SH, Cranston G, Rout D, Sugawara N, Szostak JW, et al (1988) Telomeric repeat from T. thermophila cross hybridizes with human telomeres. Nature 14:656–659
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/2833706/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="2833706"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, et al (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 3:342–345
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/7981755/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="7981755"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Antignac C, Kleinknecht C, Habib R (1998) Nephronophthisis. In: Cameron D, Davison AM, Cameron JS, Grünfeld J-P, Kerr DNS, Ritz E, Winearls G (eds) Clinical nephrology. Oxford University Press, Oxford and New York, pp 2417–2426
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Antonarakis SE and the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1–3
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/9450896/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="9450896"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis 32:1059–1062
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/9856524/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="9856524"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
|
||
</ol>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
<button
|
||
class="show-all"
|
||
ref="linksrc=show_all_references_link"
|
||
aria-controls="top-references-list-2"
|
||
|
||
data-next-page-url="/10712196/references/"
|
||
data-ga-category="reference"
|
||
data-ga-action="show_more"
|
||
>
|
||
Show all 32 references
|
||
</button>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="publication-types" class="publication-types keywords-section">
|
||
<h2 class="title">
|
||
Publication types
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Research Support, Non-U.S. Gov't"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-publication-types-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Research Support, Non-U.S. Gov't
|
||
</button><div id="keyword-actions-publication-types-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Research Support, Non-U.S. Gov't"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Research Support, Non-U.S. Gov't"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="pub_type"
|
||
data-ga-label="Research Support, Non-U.S. Gov't">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Research+Support%2C+Non-U.S.+Gov%27t"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="pub_type_link"
|
||
data-ga-label="Research Support, Non-U.S. Gov't">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Research Support, Non-U.S. Gov't"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Research Support, Non-U.S. Gov't"[pt]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="mesh-terms" class="mesh-terms keywords-section">
|
||
<h2 class="title">
|
||
MeSH terms
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Adaptor Proteins, Signal Transducing"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Adaptor Proteins, Signal Transducing
|
||
</button><div id="keyword-actions-mesh-terms-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Adaptor Proteins, Signal Transducing"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Adaptor+Proteins%2C+Signal+Transducing%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Adaptor+Proteins%2C+Signal+Transducing%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Adaptor Proteins, Signal Transducing"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Adaptor Proteins, Signal Transducing">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Adaptor+Proteins%2C+Signal+Transducing"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Adaptor Proteins, Signal Transducing">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Adaptor Proteins, Signal Transducing"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Adaptor Proteins, Signal Transducing"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Blotting, Southern"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Blotting, Southern
|
||
</button><div id="keyword-actions-mesh-terms-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Blotting, Southern"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Blotting%2C+Southern%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Blotting%2C+Southern%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Blotting, Southern"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Blotting, Southern">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Blotting%2C+Southern"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Blotting, Southern">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Blotting, Southern"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Blotting, Southern"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child
|
||
</button><div id="keyword-actions-mesh-terms-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Consanguinity"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Consanguinity
|
||
</button><div id="keyword-actions-mesh-terms-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Consanguinity"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Consanguinity%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Consanguinity%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Consanguinity"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Consanguinity">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Consanguinity"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Consanguinity">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Consanguinity"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Consanguinity"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Cytoskeletal Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Cytoskeletal Proteins
|
||
</button><div id="keyword-actions-mesh-terms-4"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Cytoskeletal Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Cytoskeletal+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Cytoskeletal+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Cytoskeletal Proteins"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Cytoskeletal Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Cytoskeletal+Proteins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Cytoskeletal Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Cytoskeletal Proteins"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Cytoskeletal Proteins"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Electrophoresis, Gel, Pulsed-Field"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-5"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Electrophoresis, Gel, Pulsed-Field
|
||
</button><div id="keyword-actions-mesh-terms-5"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Electrophoresis, Gel, Pulsed-Field"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Electrophoresis%2C+Gel%2C+Pulsed-Field%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Electrophoresis%2C+Gel%2C+Pulsed-Field%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Electrophoresis, Gel, Pulsed-Field"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Electrophoresis, Gel, Pulsed-Field">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Electrophoresis%2C+Gel%2C+Pulsed-Field"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Electrophoresis, Gel, Pulsed-Field">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Electrophoresis, Gel, Pulsed-Field"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Electrophoresis, Gel, Pulsed-Field"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Family Health"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Family Health
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Family Health"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Family+Health%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Family+Health%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Family Health"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Family Health">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Family+Health"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Family Health">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Family Health"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Family Health"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Humans">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Humans">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Humans"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Kidney Failure, Chronic / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Kidney Failure, Chronic / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Kidney Failure, Chronic / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Kidney+Failure%2C+Chronic%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Kidney+Failure%2C+Chronic%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Kidney Failure, Chronic/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Kidney Failure, Chronic / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Kidney+Failure%2C+Chronic"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Kidney Failure, Chronic / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Kidney Failure, Chronic/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Kidney Failure, Chronic/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Membrane Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Membrane Proteins
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Membrane Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Membrane+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Membrane+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Membrane Proteins"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Membrane Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Membrane+Proteins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Membrane Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Membrane Proteins"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Membrane Proteins"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Mutagenesis / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-10"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutagenesis / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutagenesis / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutagenesis%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutagenesis%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutagenesis/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Mutagenesis / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutagenesis"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutagenesis / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Mutagenesis/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutagenesis/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Physical Chromosome Mapping"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-11"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Physical Chromosome Mapping
|
||
</button><div id="keyword-actions-mesh-terms-11"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Physical Chromosome Mapping"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Physical+Chromosome+Mapping%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Physical+Chromosome+Mapping%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Physical Chromosome Mapping"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Physical Chromosome Mapping">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Physical+Chromosome+Mapping"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Physical Chromosome Mapping">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Physical Chromosome Mapping"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Physical Chromosome Mapping"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Proteins / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-12"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Proteins / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-12"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Proteins/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Proteins / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Proteins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Proteins / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Proteins/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Proteins/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Recombination, Genetic / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-13"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Recombination, Genetic / genetics
|
||
</button><div id="keyword-actions-mesh-terms-13"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Recombination, Genetic / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Recombination%2C+Genetic%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Recombination%2C+Genetic%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Recombination, Genetic/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Recombination, Genetic / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Recombination%2C+Genetic"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Recombination, Genetic / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Recombination, Genetic/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Recombination, Genetic/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Repetitive Sequences, Nucleic Acid / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-14"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Repetitive Sequences, Nucleic Acid / genetics
|
||
</button><div id="keyword-actions-mesh-terms-14"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Repetitive Sequences, Nucleic Acid / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Repetitive+Sequences%2C+Nucleic+Acid%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Repetitive+Sequences%2C+Nucleic+Acid%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Repetitive Sequences, Nucleic Acid/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Repetitive Sequences, Nucleic Acid / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Repetitive+Sequences%2C+Nucleic+Acid"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Repetitive Sequences, Nucleic Acid / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Repetitive Sequences, Nucleic Acid/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Repetitive Sequences, Nucleic Acid/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Sequence Deletion / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-15"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Sequence Deletion / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-15"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Sequence Deletion / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Sequence+Deletion%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Sequence+Deletion%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Sequence Deletion/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Sequence Deletion / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Sequence+Deletion"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Sequence Deletion / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Sequence Deletion/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Sequence Deletion/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Sequence Tagged Sites"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-16"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Sequence Tagged Sites
|
||
</button><div id="keyword-actions-mesh-terms-16"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Sequence Tagged Sites"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Sequence+Tagged+Sites%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Sequence+Tagged+Sites%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Sequence Tagged Sites"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Sequence Tagged Sites">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Sequence+Tagged+Sites"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Sequence Tagged Sites">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Sequence Tagged Sites"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Sequence Tagged Sites"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Adaptor Proteins, Signal Transducing"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Adaptor Proteins, Signal Transducing
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Adaptor Proteins, Signal Transducing"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Adaptor+Proteins%2C+Signal+Transducing%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Adaptor+Proteins%2C+Signal+Transducing%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Adaptor Proteins, Signal Transducing"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Adaptor Proteins, Signal Transducing">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Adaptor+Proteins%2C+Signal+Transducing%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Adaptor Proteins, Signal Transducing">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Adaptor Proteins, Signal Transducing"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Adaptor Proteins, Signal Transducing"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Cytoskeletal Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Cytoskeletal Proteins
|
||
</button><div id="keyword-actions-substances-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Cytoskeletal Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Cytoskeletal Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Cytoskeletal Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Cytoskeletal+Proteins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Cytoskeletal Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Cytoskeletal Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Cytoskeletal Proteins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Membrane Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Membrane Proteins
|
||
</button><div id="keyword-actions-substances-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Membrane Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Membrane+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Membrane+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Membrane Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Membrane Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Membrane+Proteins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Membrane Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Membrane Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Membrane Proteins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword NPHP1 protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
NPHP1 protein, human
|
||
</button><div id="keyword-actions-substances-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword NPHP1 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22NPHP1+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22NPHP1+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="NPHP1 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="NPHP1 protein, human">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22NPHP1+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="NPHP1 protein, human">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""NPHP1 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""NPHP1 protein, human"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Proteins
|
||
</button><div id="keyword-actions-substances-4"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Proteins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Proteins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="related-links" class="related-links">
|
||
<h2 class="title">
|
||
Related information
|
||
</h2>
|
||
|
||
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=1">
|
||
Cited in Books
|
||
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=2">
|
||
ClinVar
|
||
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=3">
|
||
Gene
|
||
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=4">
|
||
MedGen
|
||
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=5">
|
||
MedGen (Bookshelf cited)
|
||
</a></li><li><a title="Related information in MedGen (OMIM)" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_omim&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=6">
|
||
MedGen (OMIM)
|
||
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=7">
|
||
OMIM (cited)
|
||
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=8">
|
||
Protein (RefSeq)
|
||
</a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&from_uid=10712196"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=10712196&ordinalpos=1&linkpos=9">
|
||
dbVar
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="linkout" class="linkout">
|
||
<h2 class="title">
|
||
LinkOut - more resources
|
||
</h2>
|
||
|
||
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)64008-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3048&uid=10712196&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=0370475"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="Elsevier Science"
|
||
>
|
||
Elsevier Science
|
||
</a></li><li><a
|
||
href="https://europepmc.org/abstract/MED/10712196"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=6082&uid=10712196&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=0370475"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="Europe PubMed Central"
|
||
>
|
||
Europe PubMed Central
|
||
</a></li><li><a
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/10712196/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3494&uid=10712196&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=0370475"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="PubMed Central"
|
||
>
|
||
PubMed Central
|
||
</a></li></ul></li><li><h3 class="linkout-category">Other Literature Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://www.lens.org/lens/search/patent/list?q=reference_cited.npl.ids.pmid:10712196"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=8681&uid=10712196&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=0370475"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Other Literature Sources"
|
||
data-ga-label="The Lens - Patent Citations Database"
|
||
>
|
||
The Lens - Patent Citations Database
|
||
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
|
||
href="https://medlineplus.gov/genetics/condition/nephronophthisis"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3162&uid=10712196&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=0370475"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Medical"
|
||
data-ga-label="MedlinePlus Health Information"
|
||
>
|
||
MedlinePlus Health Information
|
||
</a></li></ul></li></ul>
|
||
</div>
|
||
|
||
|
||
</main>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
|
||
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
|
||
<strong class="title">Full text links</strong>
|
||
<button class="close-overlay" tabindex="3">[x]</button>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)64008-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=10712196&db=pubmed&nlmid=0370475"
|
||
title="See full text options at Elsevier Science"
|
||
tabindex="1"
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="10712196"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-celloa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/10712196/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=10712196&db=pubmed&nlmid=0370475"
|
||
title="Free full text at PubMed Central"
|
||
tabindex="2"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="10712196"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Citation Dialog">
|
||
<div class="dialog citation-dialog">
|
||
<button class="close-overlay" tabindex="1">[x]</button>
|
||
<div class="title">Cite</div>
|
||
<div class="citation-text-block">
|
||
<div class="citation-text"></div>
|
||
<div class="citation-actions">
|
||
<button
|
||
class="copy-button dialog-focus"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="copy"
|
||
tabindex="2">
|
||
Copy
|
||
</button>
|
||
|
||
<form method="post">
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="cght6CEICSM1vMcP5tkLRB7w7KcsT4mxt31yJs74ctzvpdiFIMXNlJDaFOUEMFUR">
|
||
<button type="submit"
|
||
class="export-button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="download"
|
||
title="Download a file for external citation management software"
|
||
tabindex="3">
|
||
<span class="download-title">Download .nbib</span>
|
||
<span class="download-title-mobile">.nbib</span>
|
||
</button>
|
||
</form>
|
||
|
||
|
||
|
||
|
||
<div class="citation-style-selector-wrapper">
|
||
<label class="selector-label">Format:</label>
|
||
<select aria-label="Format" class="citation-style-selector" tabindex="4">
|
||
|
||
<option data-style-url-name="ama"
|
||
value="AMA"
|
||
>
|
||
AMA
|
||
</option>
|
||
|
||
<option data-style-url-name="apa"
|
||
value="APA"
|
||
>
|
||
APA
|
||
</option>
|
||
|
||
<option data-style-url-name="mla"
|
||
value="MLA"
|
||
>
|
||
MLA
|
||
</option>
|
||
|
||
<option data-style-url-name="nlm"
|
||
value="NLM"
|
||
selected="selected">
|
||
NLM
|
||
</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="overlay" role="dialog" aria-label="More Actions Dialog">
|
||
<div id="more-actions-dialog" class="dialog more-actions-dialog">
|
||
<strong class="title">Send To</strong>
|
||
<ul class="more-actions-links">
|
||
|
||
<li><a id="clipboard-trigger" role="button" class="submit-button clipboard-trigger clipboard-trigger-target dialog-focus link-item " href="#">Clipboard</a></li>
|
||
|
||
<li><a class="email-trigger link-item" role="button" href="#">Email</a></li>
|
||
<li><a class="save-trigger link-item" role="button" href="#">Save</a></li>
|
||
|
||
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10712196%2F%23open-bibliography-panel">My Bibliography</a></li>
|
||
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10712196%2F%23open-collections-panel">Collections</a></li>
|
||
|
||
<li><a class="citation-manager-trigger link-item" role="button" href="#">Citation Manager</a></li>
|
||
</ul>
|
||
<button class="close-overlay">[x]</button>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="ncbi-footer">
|
||
<div class="literature-footer" role="complementary" title="Links to NCBI Literature Resources">
|
||
<div class="usa-grid">
|
||
<p class="literature-footer-text">NCBI Literature Resources</p>
|
||
<p class="literature-footer-text">
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh/">MeSH</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="pmc_link" href="https://www.ncbi.nlm.nih.gov/pmc/">PMC</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="bookshelf_link" href="https://www.ncbi.nlm.nih.gov/books">Bookshelf</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="disclaimer_link" href="/disclaimer/">Disclaimer</a>
|
||
</p>
|
||
<p class="literature-footer-text attribution-statement">The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.</p>
|
||
</div>
|
||
</div>
|
||
<!-- ========== BEGIN FOOTER ========== -->
|
||
<footer>
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008"
|
||
d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z"
|
||
fill="#5B616B"/>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11"
|
||
d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin"
|
||
href="https://www.linkedin.com/company/ncbinlm"
|
||
aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11"
|
||
d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11"
|
||
d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12"
|
||
d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter"
|
||
target="_blank" rel="noopener noreferrer">
|
||
<svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="38" height="38" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg></a>
|
||
</li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine"
|
||
aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
|
||
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<style type="text/css">
|
||
.st10 {
|
||
fill: #FFFFFF;
|
||
}
|
||
|
||
.st110 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
</style>
|
||
<title>SM-Facebook</title>
|
||
<g>
|
||
<g>
|
||
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
|
||
v67.5H135v-67.5h21.7L159,99.1z"></path>
|
||
</g>
|
||
</g>
|
||
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
|
||
target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
|
||
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
|
||
style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<title>SM-Youtube</title>
|
||
<style type="text/css">
|
||
.st4 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
|
||
.st5 {
|
||
fill: #FFFFFF;
|
||
}
|
||
</style>
|
||
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
|
||
<g transform="translate(0,-952.36218)">
|
||
<path class="st5"
|
||
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
|
||
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
|
||
</g>
|
||
</svg></a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br>
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
|
||
class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
|
||
class="text-white">FOIA</a><br>
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white"
|
||
href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a
|
||
class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
</footer>
|
||
<!-- ========== END FOOTER ========== -->
|
||
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
|
||
|
||
<script type="text/javascript">
|
||
var nwds_version = "1.2.3";
|
||
|
||
var meta_nwds_ver = document.createElement('meta');
|
||
meta_nwds_ver.name = 'ncbi_nwds_ver';
|
||
meta_nwds_ver.content = nwds_version;
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
|
||
|
||
var meta_nwds = document.createElement('meta');
|
||
meta_nwds.name = 'ncbi_nwds';
|
||
meta_nwds.content = 'yes';
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
|
||
|
||
var alertsUrl = "/core/alerts/alerts.js";
|
||
if (typeof ncbiBaseUrl !== 'undefined') {
|
||
alertsUrl = ncbiBaseUrl + alertsUrl;
|
||
}
|
||
</script>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<!-- jQuery with plugins -->
|
||
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
|
||
|
||
|
||
|
||
|
||
<!-- Project base scripts -->
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.550e9c8906a2.js"></script>
|
||
|
||
|
||
<script>
|
||
ncbi.awesome.basePage.init({
|
||
userInfo: {
|
||
isLoggedIn: false,
|
||
username: "",
|
||
loginUrl: "https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10712196%2F",
|
||
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/10712196/"
|
||
},
|
||
baseUrl: 'https://www.ncbi.nlm.nih.gov',
|
||
noSessionCookieName: "pm-ns",
|
||
searchIdCookieName: "pm-sid",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
searchFormSubmittedCookieName: "pm-sfs",
|
||
isOnSearchPageCookieName: "pm-iosp",
|
||
backToSearchCookieName: "pm-btsl",
|
||
clinicalSeeAllCookieName: "pm-csa",
|
||
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
|
||
userShareRequestFailed: "",
|
||
noSharedSettings: "myncbi_no_shared_settings",
|
||
noSharedAccount: "myncbi_no_shared_account"
|
||
});
|
||
</script>
|
||
|
||
<script type="module">
|
||
import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
|
||
|
||
jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
|
||
galert(['body > *:last-child']);
|
||
dismissableNCBIAlert();
|
||
}).fail(function() {
|
||
});
|
||
</script>
|
||
|
||
|
||
<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
|
||
|
||
|
||
|
||
|
||
<script>
|
||
ncbi.awesome.articlePage.init({
|
||
baseSuggestionsUrl: "/suggestions/",
|
||
mathJaxUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mathjax/unpacked/MathJax.js?config=MML_CHTML",
|
||
clipboardAPIRoot: "/ajax/clipboard/",
|
||
clipboardNextPageUrl: "/clipboard-next-page/",
|
||
searchIdCookieName: "pm-sid",
|
||
searchFormSubmittedCookieName: "pm-sfs",
|
||
backToSearchCookieName: "pm-btsl",
|
||
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
|
||
longTermPrefix: "longquery",
|
||
adjNavURLPath: "/10712196/adj-nav/",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
articlePageUrl: "/10712196/",
|
||
markJSUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mark.js/dist/jquery.mark.js",
|
||
termHighlightColor: "",
|
||
highlightedTokens: "",
|
||
citeFormatPreferenceCookieName: "pm-cf"
|
||
});
|
||
</script>
|
||
|
||
</body>
|
||
</html> |